It’s a tale that could be straight out of the pages of a Stephen King horror story and is guaranteed to send chills up your spine. A two-and-a-halfyear-old baby boy is suffering from a disease that compels him to gnaw away at his own flesh. Saheb Roy is struggling for life at Uluberia’s Baniban Nurullapara village, barely 40km from Kolkata. Over the past few months, he has bitten away the tips of his fingers and chewed through the skin on his wrists.
His helpless parents don’t know where to turn for help. Their son is suffering from an extremely rare disorder known as Lesch Nyhan Syndrome (LNS). There is no known cure.
Young Saheb’s tendency to bite his own body has left him with raw, gaping wounds that bleed profusely. His parents, local jari workers, have run from pillar to post seeking some kind of help after being forced to endure the torture of watching Saheb bleeding and crying in pain for months, but the city’s medical fraternity has no idea how to save their child.
Lesch Nyhan Syndrone is one of the rarest diseases in the world and is found mainly in male infants. Babies suffering from the disorder tend to mutilate themselves by biting or scratching at their own fingers, lips and other parts of the body, leaving deep scars. The disease arises from a deficiency in the production of the enzyme hypoxanthine phosphoribosyl transferase, which results in over-production of purine and accumulation of uric acid in the victims’ systems.
No medical treatment exists to alleviate the symptoms of self-mutilation in LNS patients.
“I don’t know if my son will be cured. It’s painful to see my baby always biting his fingers and wrists. He bleeds so much,” Saheb’s mother, Ruma, told HT. “We cover his bleeding fingers with cloth to prevent him from biting, but it doesn’t always work. I don’t know how much longer I can bear this,” she added.
“We’ve visited several doctors in our locality and the city. But no one has been able to offer us any hope. Everybody says it’s a very rare disease. We are helpless. You, too, will be horrified if you see his wounded hands (seepix),” said Ruma in a voice fraught with stress and anxiety.
“I was surprised when I first attended the baby in the outdoor ward. He has virtually nibbled through the thumb and other fingers of his right hand. He has a tendency to self-mutilate by biting himself. I advised his parents to take little Saheb to the paediatric medicine department at the Institute of Post-Graduate Medical Education & Research (IPGME&R), as well SSKM Medical College Hospital for treatment,” Dr Snehangshu Dholey, medical officer at Brindabanpur BPHC, said.
“Hardly one case of LNS is found in every 500,000 babies. This may even be the first case of LNS ever recorded in Bengal. Only two or three cases have been reported, so far, across the country,” he added.
With no known cure and what little treatment that exists being so prohibitively expensive that it is well beyond the means of his parents, there is little chance of a happy ending to Saheb’s tale.
Dr Anindya Dasgupta, head of the biochemistry department at Calcutta National Medical College Hospital, touched on both the rarity of the disease and the practical problems involved in its treatment when speaking to HT.
“I’ve never heard of an LNS case being reported in Bengal throughout my professional career of more than 25 years. It’s a very rare congenital enzyme-related disorder. Genetic therapy is the only confirmed treatment for LNS. But the therapy is still in the trial stage across the world. The enzyme replacement method could be an alternative treatment, but it’s highly expensive and there are hardly only one or two medical institutes in the country which have the necessary facilities,” he said.
“It’s a very rare syndrome and there’s no successful treatment. Only long-time enzyme replacement can prolong the lifespan of a patient,” Dr Sandip Samanta, a paediatric medicine expert associated with the state-run BC Ray Memorial Hospital for Children in Beliaghata added, confirming Dr Dasgupta’s opinion.
Unless help comes from somewhere, there is little hope for an end to the misery of parents Mahadeb and Ruma Roy, and even less for young Saheb.